• Gene id: 610

Gene Summary

• Gene Symbol: HCN2   Gene   UCSC   Ensembl
• Aliases: BCNG-2, BCNG2, HAC-1
• Gene name: hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2
• Alternate names: potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2, brain cyclic nucleotide-gated channel 2, hyperpolarization activated cyclic nucleotide gated potassium channel 2,
• Gene location: 19p13.3 (589880: 617158)     Exons: 8     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated by cAMP and can produce a fast, large current. Defects
• OMIM: 613133

SNPs

rs2976084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.75456899G>A
NC_000003.12   g.75456899G>T
NC_000003.11   g.75506050G>A
NC_000003.11   g.75506050G>T
NG_025593.1   g.34405C>T
NG_025593.1   g.34405C>A
NR_151706.1   n.721G>A
NR_151706.1   n.721G>T|SEQ=[G/A/T]|GENE=LINC02018

Protein Summary

• Protein general information: Q9UL51  
  • Name: Potassium/sodium hyperpolarization activated cyclic nucleotide gated channel 2 (Brain cyclic nucleotide gated channel 2) (BCNG 2)
  • Length: 889  
  • Mass: 96950
  • Tissue specificity: Highly expressed throughout the brain. Detected at low levels in heart. {ECO
• Sequence:

  MDARGGGGRPGESPGATPAPGPPPPPPPAPPQQQPPPPPPPAPPPGPGPAPPQHPPRAEALPPEAADEGGPRGRL
  RSRDSSCGRPGTPGAASTAKGSPNGECGRGEPQCSPAGPEGPARGPKVSFSCRGAASGPAPGPGPAEEAGSEEAG
  PAGEPRGSQASFMQRQFGALLQPGVNKFSLRMFGSQKAVEREQERVKSAGAWIIHPYSDFRFYWDFTMLLFMVGN
  LIIIPVGITFFKDETTAPWIVFNVVSDTFFLMDLVLNFRTGIVIEDNTEIILDPEKIKKKYLRTWFVVDFVSSIP
  VDYIFLIVEKGIDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVMRICNLISMML
  LLCHWDGCLQFLVPMLQDFPRNCWVSINGMVNHSWSELYSFALFKAMSHMLCIGYGRQAPESMTDIWLTMLSMIV
  GATCYAMFIGHATALIQSLDSSRRQYQEKYKQVEQYMSFHKLPADFRQKIHDYYEHRYQGKMFDEDSILGELNGP
  LREEIVNFNCRKLVASMPLFANADPNFVTAMLTKLKFEVFQPGDYIIREGTIGKKMYFIQHGVVSVLTKGNKEMK
  LSDGSYFGEICLLTRGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVAIDRLDRIGKKNSILLHKVQ
  HDLNSGVFNNQENAIIQEIVKYDREMVQQAELGQRVGLFPPPPPPPQVTSAIATLQQAAAMSFCPQVARPLVGPL
  ALGSPRLVRRPPPGPAPAAASPGPPPPASPPGAPASPRAPRTSPYGGLPAAPLAGPALPARRLSRASRPLSASQP
  SLPHGAPGPAASTRPASSSTPRLGPTPAARAAAPSPDRRDSASPGAAGGLDPQDSARSRLSSNL

• Structural information:
  • Interpro: IPR018490  IPR018488  IPR000595  IPR005821  IPR013621   IPR003938  IPR014710  
  • Prosite: PS00888 PS50042
  • CDD: cd00038
  • PDB: 2MPF 3U10
  • PDBsum: 2MPF 3U10
  • DIP: 52285
  • STRING: ENSP00000251287
• Other Databases: GeneCards:  HCN2  Malacards:  HCN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005249	voltage-gated potassium channel activity	IDA	molecular function
GO:0005222	intracellular cAMP-activated cation channel activity	IDA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005272	sodium channel activity	IEA	molecular function
GO:0005267	potassium channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0030552	cAMP binding	IEA	molecular function
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0008076	voltage-gated potassium channel complex	TAS	cellular component
GO:0007267	cell-cell signaling	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0098855	HCN channel complex	IDA	cellular component
GO:0098719	sodium ion import across plasma membrane	IDA	biological process
GO:0086012	membrane depolarization during cardiac muscle cell action potential	IC	biological process
GO:1990573	potassium ion import across plasma membrane	IDA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0071321	cellular response to cGMP	IDA	biological process
GO:0042391	regulation of membrane potential	IMP	biological process
GO:0035725	sodium ion transmembrane transport	IMP	biological process
GO:0071805	potassium ion transmembrane transport	IMP	biological process
GO:0005249	voltage-gated potassium channel activity	IMP	molecular function
GO:0005248	voltage-gated sodium channel activity	IMP	molecular function
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005249	voltage-gated potassium channel activity	IDA	molecular function
GO:0005222	intracellular cAMP-activated cation channel activity	IDA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005272	sodium channel activity	IEA	molecular function
GO:0005267	potassium channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0030552	cAMP binding	IEA	molecular function
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0008076	voltage-gated potassium channel complex	TAS	cellular component
GO:0007267	cell-cell signaling	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0098855	HCN channel complex	IDA	cellular component
GO:0098719	sodium ion import across plasma membrane	IDA	biological process
GO:0086012	membrane depolarization during cardiac muscle cell action potential	IC	biological process
GO:1990573	potassium ion import across plasma membrane	IDA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0071321	cellular response to cGMP	IDA	biological process
GO:0042391	regulation of membrane potential	IMP	biological process
GO:0035725	sodium ion transmembrane transport	IMP	biological process
GO:0071805	potassium ion transmembrane transport	IMP	biological process
GO:0005249	voltage-gated potassium channel activity	IMP	molecular function
GO:0005248	voltage-gated sodium channel activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway
hsa04929	GnRH secretion

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray